Meitinger, Thomas

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

Hayflick, S. J., Kruer, M. C., Gregory, A., Haack, T. B., Kurian, M. A., Houlden, H. H., Anderson, J., Boddaert, N., Sanford, L., Harik, S. I., et al. (2013) · Brain

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 250

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Kornblum, C., Nicholls, T. J., Haack, T. B., Schöler, S., Peeva, V., Danhauser, K., Hallmann, K., Zsurka, G., Rorbach, J., Iuso, A., et al. (2013) · Nature Genetics

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 232

Genetic determinants of serum testosterone concentrations in men

Ohlsson, C., Wallaschofski, H., Lunetta, K. L., Stolk, L., Perry, J. R. B., Koster, A., Petersen, A.-K., Eriksson, J., Lehtimäki, T., Huhtaniemi, I. T., et al. (2011) · PLoS Genetics

Hormonal and reproductive studiesGenetic Associations and Epidemiology

Cited by 224

Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations

Demirkan, A., van Duijn, C. M., Ugocsai, P., Isaacs, A., Pramstaller, P. P., Liebisch, G., Wilson, J. F., Johansson, Å., Rudan, I., Aulchenko, Y. S., et al. (2012) · PLoS Genetics

Genetic Associations and EpidemiologySphingolipid Metabolism and Signaling

Cited by 205

CLOCK gene variants associate with sleep duration in two independent populations

Allebrandt, K. V., Teder-Laving, M., Akyol, M., Pichler, I., Müller-Myhsok, B., Pramstaller, P., Merrow, M., Meitinger, T., Metspalu, A., & Roenneberg, T. (2010) · Biological Psychiatry

Circadian rhythm and melatoninSleep and related disorders

Cited by 159

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement

Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., et al. (2016) · The American Journal of Human Genetics

Complement system in diseasesOral microbiology and periodontitis research

Cited by 123

Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications.

Sterenborg, R. B. T. M., Steinbrenner, I., Li, Y., Bujnis, M. N., Naito, T., Marouli, E., Galesloot, T. E., Babajide, O., Andreasen, L., Astrup, A., et al. (2024) · Nature Communications

Genetic Associations and EpidemiologyThyroid Disorders and Treatments

Cited by 79

Metformin Effect on Nontargeted Metabolite Profiles in Patients With Type 2 Diabetes and in Multiple Murine Tissues

Adam, J., Brandmaier, S., Leonhardt, J., Scheerer, M. F., Mohney, R. P., Xu, T., Bi, J., Rotter, M., Troll, M., Chi, S., et al. (2016) · Diabetes

Metabolism, Diabetes, and CancerMetabolomics and Mass Spectrometry Studies

Cited by 68

Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways

Young, W. J., Lahrouchi, N., Isaacs, A., Duong, T., Foco, L., Ahmed, F., Brody, J. A., Salman, R., Noordam, R., Benjamins, J.-W., et al. (2022) · Nature Communications

Cardiac electrophysiology and arrhythmiasGenetic Associations and Epidemiology

Cited by 49

A multi-ancestry genome-wide study incorporating gene–smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure

Sung, Y. J., de las Fuentes, L., Winkler, T. W., Chasman, D. I., Bentley, A. R., Kraja, A. T., Ntalla, I., Warren, H. R., Guo, X., Schwander, K., et al. (2019) · Human Molecular Genetics

Genetic Associations and EpidemiologyBlood Pressure and Hypertension Studies

Cited by 43

Mapping the Genetic Architecture of Gene Regulation in Whole Blood

Schramm, K., Marzi, C., Schurmann, C., Carstensen, M., Reinmaa, E., Biffar, R., Eckstein, G., Gieger, C., Grabe, H.-J., Homuth, G., et al. (2014) · PLoS ONE

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 33

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

Wagner, M., Skorobogatko, Y., Pode-Shakked, B., Powell, C. M., Alhaddad, B., Seibt, A., Barel, O., Heimer, G., Hoffmann, C., Demmer, L. A., et al. (2020) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersProtein Kinase Regulation and GTPase Signaling

Cited by 31

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

Benyamin, B., Esko, T., Ried, J. S., Radhakrishnan, A., Vermeulen, S. H., Traglia, M., Gögele, M., Anderson, D., Broer, L., Podmore, C., et al. (2014) · Nature Communications

Iron Metabolism and DisordersGenetic Associations and Epidemiology

Cited by 30

PSEA: Phenotype Set Enrichment Analysis—A New Method for Analysis of Multiple Phenotypes

Ried, J. S., Döring, A., Oexle, K., Meisinger, C., Winkelmann, J., Klopp, N., Meitinger, T., Peters, A., Suhre, K., Wichmann, H. ‐., et al. (2012) · Genetic Epidemiology

Bioinformatics and Genomic NetworksGenetic Associations and Epidemiology

Cited by 21